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Basic and Clinical Cancer Research، جلد ۱۱، شماره ۴، صفحات ۳۲۹-۳۲۹
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عنوان انگلیسی JAK2 and PCR-HRM, is it a sensitive assay to detect JAK2V617F mutation?
چکیده انگلیسی مقاله Background A substitution of G to T at nucleotide 1849 in exon 14 of the Janus kinase2 (JAK2) gene is recognized to MPNs disorders. Based on WHO guidelines detection of the mutation is very important to confirm the disease in the suspected patients. Materials and Methods Eighty-seven patients with different background diseases were tested for JAK2 V617F mutation by four different methods such as PCR-RFLP, ARMS, PCR-HRM and two different commercial kits. Results The mean age of patients was 53.38±17.43 years and 72.4% of them were male. JAK2 mutation was detected in 16 patients (18.3%). 7 (43.75%) of them suffered from PV, 5 (31.25%) from ET and 3 (18.75%) from PMF, 1 (6.15%) from unclassified neoplastic disorder. The frequency of JAK2 mutation was 71.4% (5/7) in PV, 80% (4/5) in ET and 66.7% (2/3) in PMF patients. The Sensitivity, Specificity, PPV, NPV, GE of PCR-HRM for detection of the JAK2 mutation was 86.7%, 100%, 100%, 97.3%, and 97.7%, respectively. While the sensitivity, specificity, PPV, NPV and GE of PCR-RFLP were 93.3%, 80.5%, 50%, 98.3% and 82.7%, respectively. On the other hand, the sensitivity, specificity, PPV, NPV, and GE of ARMS assays were evaluated by about 80%, 96%, 100%, 96%, and 96.5%, respectively.  Conclusion This study showed the PCR-HRM was a more sensitive assay to detect the JAK2 V617F mutation than the other assays. So it can be used as a quick, easy and effective method to screening the JAK2 V617F mutation in patients with MPNs disorders. It must be accompanied by PCR-RFLP as a gold standard method for confirmation of the mutation of JAK2 V617F.
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نویسندگان مقاله | Mitra Sadat Rezaei


| Mihan PourAbdollah Toutkaboni


| Babak Salimi


| Sharareh Seifi


| Maryam Sheikholeslami
3. Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
نشانی اینترنتی http://bccr.tums.ac.ir/index.php/bccrj/article/view/329
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